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May 1995

Atypical Retinochoroidal Coloboma in Patients With Dysplastic Optic Discs and Transsphenoidal EncephaloceleReport of Five Cases

Author Affiliations

From the Departments of Ophthalmology, the University of Arkansas for Medical Sciences, Little Rock (Drs Brodsky and Lam), University of California-San Francisco (Drs W. F. Hoyt and C. S. Hoyt), and Johns Hopkins School of Medicine, Wilmer Eye Institute, Baltimore, Md (Dr Miller).

Arch Ophthalmol. 1995;113(5):624-628. doi:10.1001/archopht.1995.01100050092036

Objective:  To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs.

Methods:  Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively.

Results:  Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect.

Conclusion:  In patients with optic disc dysplasias, the finding of this V- or tongue-shaped retinochoroidal pigmentary anomaly should prompt neuroimaging to look for transsphenoidal encephalocele.